Case Reports
doi: 10.1002/ajmg.a.30088.
Disomy of distal Xq in males: case report and overview
Affiliations
- PMID: 15214009
- DOI: 10.1002/ajmg.a.30088
Item in Clipboard
Case Reports
Disomy of distal Xq in males: case report and overview
Am J Med Genet A.
.
Abstract
A 46,XYq 8-year-old male was referred for microcephaly, growth, and mental retardation, hypotonia, genital hypoplasia, and dysmorphisms. FISH analysis showed that the rearranged Y chromosome originated from an unbalanced translocation of Xq27.3-qter onto the deleted Yq11.22. Analysis of reported patients with disomy of region distal to Xq26 suggests that this rare anomaly, associated with failure to dosage compensate X-linked genes that are normally inactivated, when present in two copies, is causing a quite distinct phenotype. This imbalance is the aberrant by product of the recombinogenic pairing of the distal pseudoautosomal Xq-Yq region at male meiosis.
Copyright 2004 Wiley-Liss, Inc.
Similar articles
-
Distal Xq duplication and functional Xq disomy.Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Orphanet J Rare Dis. 2009. PMID: 19232094 Free PMC article. Review.
-
Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype.Nat Genet. 1994 Nov;8(3):243-50. doi: 10.1038/ng1194-243. Nat Genet. 1994. PMID: 7874166
-
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.Clin Dysmorphol. 2009 Jan;18(1):9-12. doi: 10.1097/MCD.0b013e3283157cad. Clin Dysmorphol. 2009. PMID: 19090026
-
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.Am J Med Genet A. 2013 Jul;161A(7):1779-85. doi: 10.1002/ajmg.a.35975. Epub 2013 May 23. Am J Med Genet A. 2013. PMID: 23704079
-
Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.Am J Med Genet. 2001 Mar 1;99(2):111-4. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1150>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11241467 Review.
Cited by
-
Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.BMC Med Genomics. 2024 Feb 21;17(1):57. doi: 10.1186/s12920-024-01824-8. BMC Med Genomics. 2024. PMID: 38383389 Free PMC article. Review.
-
MECP2 duplications in six patients with complex sex chromosome rearrangements.Eur J Hum Genet. 2011 Apr;19(4):409-15. doi: 10.1038/ejhg.2010.195. Epub 2010 Dec 1. Eur J Hum Genet. 2011. PMID: 21119712 Free PMC article.
-
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.Eur J Hum Genet. 2010 Mar;18(3):285-90. doi: 10.1038/ejhg.2009.159. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844254 Free PMC article.
-
Distal Xq duplication and functional Xq disomy.Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Orphanet J Rare Dis. 2009. PMID: 19232094 Free PMC article. Review.
-
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.Eur J Hum Genet. 2009 Apr;17(4):434-43. doi: 10.1038/ejhg.2008.192. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854860 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
